ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)

gnomAD frequency: 0.00210  dbSNP: rs200858199
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245911 SCV000302079 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000710825 SCV000718877 benign not provided 2019-06-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710825 SCV000841130 benign not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV000710825 SCV001109088 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139015 SCV001299121 benign Alport syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000710825 SCV002496642 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing COL4A3: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710825 SCV004564882 likely benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000710825 SCV001955528 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710825 SCV001970021 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001139015 SCV002076439 likely benign Alport syndrome 2021-02-24 no assertion criteria provided clinical testing

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